NBAS, NBAS subunit of NRZ tethering complex, 51594

N. diseases: 123; N. variants: 22
Source: ALL
Disease Type Disease Class Semantic Type N. genes d N. SNPs d Score gda EL gda EI gda N. PMIDs N. SNPs gda First Ref. Last Ref.
CUI: C0021846
Disease: Intestinal Polyps
Intestinal Polyps
phenotype Pathological Conditions, Signs and Symptoms Anatomical Abnormality 48 1 0.010 None 1.000 1 2006 2006
CUI: C0032584
Disease: polyps
polyps
phenotype Pathological Conditions, Signs and Symptoms Anatomical Abnormality 390 18 0.010 None 1.000 1 2006 2006
CUI: C0013336
Disease: Dwarfism
Dwarfism
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Endocrine System Diseases Congenital Abnormality 1261 77 0.140 None 1.000 4 1 2010 2017
CUI: C0175754
Disease: Agenesis of corpus callosum
Agenesis of corpus callosum
disease Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases Congenital Abnormality 615 45 0.010 None 1.000 1 2017 2017
CUI: C0282160
Disease: Aplasia Cutis Congenita
Aplasia Cutis Congenita
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases Congenital Abnormality 393 14 0.010 None 1.000 1 2017 2017
CUI: C0025995
Disease: Micromelia
Micromelia
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases Congenital Abnormality 104 1 0.100 None 0
CUI: C0221356
Disease: Brachycephaly
Brachycephaly
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases Congenital Abnormality 186 20 0.100 None 0
CUI: C0221357
Disease: Brachydactyly
Brachydactyly
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases Congenital Abnormality 325 43 0.100 None 0
CUI: C0678230
Disease: Congenital Epicanthus
Congenital Epicanthus
disease Congenital Abnormality 417 30 0.100 None 0
CUI: C0162557
Disease: Liver Failure, Acute
Liver Failure, Acute
disease Digestive System Diseases Disease or Syndrome 282 21 0.190 None 1.000 9 1 2015 2019
CUI: C0022660
Disease: Kidney Failure, Acute
Kidney Failure, Acute
disease Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases Disease or Syndrome 826 32 0.070 None 1.000 7 2017 2020
SHORT STATURE, OPTIC NERVE ATROPHY, AND PELGER-HUET ANOMALY
disease Disease or Syndrome 1 4 0.760 None 1.000 7 4 2010 2019
CUI: C3809651
Disease: INFANTILE LIVER FAILURE SYNDROME 2
INFANTILE LIVER FAILURE SYNDROME 2
disease Disease or Syndrome 2 12 0.730 None 1.000 6 12 2015 2019
CUI: C0030779
Disease: Pelger-Huet Anomaly
Pelger-Huet Anomaly
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Hemic and Lymphatic Diseases Disease or Syndrome 25 7 0.050 None 1.000 5 2010 2020
CUI: C0029124
Disease: Optic Atrophy
Optic Atrophy
disease Eye Diseases; Nervous System Diseases Disease or Syndrome 568 51 0.130 None 1.000 3 2010 2017
CUI: C0085605
Disease: Liver Failure
Liver Failure
disease Digestive System Diseases Disease or Syndrome 293 20 0.030 None 1.000 3 2015 2020
CUI: C0008354
Disease: Cholera
Cholera
disease Infections Disease or Syndrome 209 1 0.020 None 1.000 2 2001 2011
CUI: C0022658
Disease: Kidney Diseases
Kidney Diseases
group Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases Disease or Syndrome 1180 140 0.020 None 1.000 2 2017 2019
CUI: C0023890
Disease: Liver Cirrhosis
Liver Cirrhosis
disease Pathological Conditions, Signs and Symptoms; Digestive System Diseases Disease or Syndrome 1182 189 0.020 None 1.000 2 2019 2019
CUI: C0268731
Disease: Renal glomerular disease
Renal glomerular disease
group Pathological Conditions, Signs and Symptoms; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases Disease or Syndrome 221 7 0.020 None 1.000 2 2017 2018
CUI: C1565489
Disease: Renal Insufficiency
Renal Insufficiency
disease Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases Disease or Syndrome 615 42 0.020 None 1.000 2 2017 2019
CUI: C1623038
Disease: Cirrhosis
Cirrhosis
disease Pathological Conditions, Signs and Symptoms Disease or Syndrome 919 110 0.020 None 1.000 2 2019 2019
CUI: C4324374
Disease: Renal tubular injury
Renal tubular injury
disease Disease or Syndrome 36 1 0.020 None 1.000 2 2018 2019
CUI: C0003615
Disease: Appendicitis
Appendicitis
disease Digestive System Diseases; Infections Disease or Syndrome 83 10 0.010 None 1.000 1 2019 2019
CUI: C0003850
Disease: Arteriosclerosis
Arteriosclerosis
disease Cardiovascular Diseases Disease or Syndrome 2006 267 0.010 None 1.000 1 2017 2017